Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.H46Q

HBA2

1,116 papers

RefSeq Summary

The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) ...

Pfam Domains

Globinaa 27–137UCSCGlobin
Globinaa 27–137UCSCGlobin

Gene Aliases

HGNC Name

hemoglobin subunit alpha 2

HGNC Alias Symbol

HBA-T2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000517.6
p.H46Q
c.138C>G
Surrounding Variants
3 papers
NM_000517.6
p.H46Q
c.138C>A
1 paper
NM_000517.6
p.H46H
c.138C>T
1 paper
NM_000517.6
p.H46P
c.137A>C
1 paper
NM_000517.6
p.H46R
c.137A>G
1 paper
NM_000517.6
p.F47I
c.139T>A
2 papers
NM_000517.6
p.H46N
c.136C>A
3 papers
NM_000517.6
p.H46D
c.136C>G
2 papers
NM_000517.6
p.F47S
c.140T>C
2 papers
NM_000517.6
p.D48_A54delFs
c.142_161del20
1 paper
NM_000517.6
p.P45_H46insFs
c.135_136insT
5 papers
NM_000517.6
p.P45R
c.134C>G
3 papers
NM_000517.6
p.P45L
c.134C>T
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